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Image from GeneReviews
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Aortic aneurysm, familial thoracic 7(AAT7)

MedGen UID:
462427
•Concept ID:
C3151077
•
Disease or Syndrome
Synonyms: AAT7; AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM; MYLK-Related Thoracic Aortic Aneurysms and Aortic Dissections
 
Gene (location): MYLK (3q21.1)
 
Monarch Initiative: MONDO:0013418
OMIM®: 613780

Authors:
Dianna M Milewicz  |  Alana C Cecchi   view full author information

Clinical features

From HPO
Sudden death
MedGen UID:
8257
•Concept ID:
C0011071
•
Pathologic Function
Rapid and unexpected death.
See: Feature record | Search on this feature
Aortic aneurysm
MedGen UID:
362
•Concept ID:
C0003486
•
Disease or Syndrome
Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.
See: Feature record | Search on this feature
Aortic rupture
MedGen UID:
8151
•Concept ID:
C0003496
•
Disease or Syndrome
Tearing of the aortic wall generally associated with profuse internal bleeding.
See: Feature record | Search on this feature
Ascending aortic dissection
MedGen UID:
322966
•Concept ID:
C1836653
•
Disease or Syndrome
A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.
See: Feature record | Search on this feature
Descending aortic dissection
MedGen UID:
868484
•Concept ID:
C4022878
•
Disease or Syndrome
A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Outcomes of Early-Onset Acute Type A Aortic Dissection　- Influence of Etiologic Factors.
Kimura N, Aizawa K, Kawahito K, Itagaki R, Yamaguchi A, Misawa Y, Siepe M, Czerny M, Beyersdorf F, Kari FA, Rylski B
Circ J 2019 Jan 25;83(2):285-294. Epub 2018 Dec 22 doi: 10.1253/circj.CJ-18-0969. PMID: 30584230
Valve-Sparing Root Replacement in Elderly Patients With Annuloaortic Ectasia.
Yokawa K, Ikeno Y, Koda Y, Henmi S, Matsueda T, Takahashi H, Nakai H, Yamanaka K, Gotake Y, Tanaka H, Okita Y
Ann Thorac Surg 2019 May;107(5):1342-1347. Epub 2018 Dec 7 doi: 10.1016/j.athoracsur.2018.10.075. PMID: 30529676
Ventricular-Vascular Coupling in Marfan and Non-Marfan Aortopathies.
Loeper F, Oosterhof J, van den Dorpel M, van der Linde D, Lu Y, Robertson E, Hambly B, Jeremy R
J Am Heart Assoc 2016 Nov 16;5(11) doi: 10.1161/JAHA.116.003705. PMID: 27852591Free PMC Article
Familial non-syndromal thoracic aortic aneurysms and dissections - Incidence and family screening outcomes.
Robertson EN, van der Linde D, Sherrah AG, Vallely MP, Wilson M, Bannon PG, Jeremy RW
Int J Cardiol 2016 Oct 1;220:43-51. Epub 2016 Jun 23 doi: 10.1016/j.ijcard.2016.06.086. PMID: 27372041
Clinical experience with the Bentall procedure: 28 years.
Joo HC, Chang BC, Youn YN, Yoo KJ, Lee S
Yonsei Med J 2012 Sep;53(5):915-23. doi: 10.3349/ymj.2012.53.5.915. PMID: 22869473Free PMC Article

Diagnosis

Exploring the genetic pathogenicity of aortic dissection from 72 Han Chinese individuals using next-generation sequencing.
Pan M, Chen S, Wang H, Wu S, Ding Z, Wang Y, Li L, Li Z, Liu Q
Clin Genet 2020 May;97(5):704-711. Epub 2020 Mar 16 doi: 10.1111/cge.13729. PMID: 32154576
Clinical outcomes of aortic repair in young adult patients with ACTA2 mutations.
Seike Y, Minatoya K, Sasaki H, Tanaka H, Itonaga T, Inoue Y, Morisaki H, Morisaki T, Ishibashi-Ueda H, Kobayashi J
Gen Thorac Cardiovasc Surg 2017 Dec;65(12):686-691. Epub 2017 Aug 14 doi: 10.1007/s11748-017-0810-0. PMID: 28808903
Familial non-syndromal thoracic aortic aneurysms and dissections - Incidence and family screening outcomes.
Robertson EN, van der Linde D, Sherrah AG, Vallely MP, Wilson M, Bannon PG, Jeremy RW
Int J Cardiol 2016 Oct 1;220:43-51. Epub 2016 Jun 23 doi: 10.1016/j.ijcard.2016.06.086. PMID: 27372041
Repair of idiopathic ascending aortic aneurysm in a 7-year-old child.
Karthekeyan BR, Vakamudi M, Thangavel P
Cardiol Young 2015 Jan;25(1):154-7. Epub 2014 Jan 15 doi: 10.1017/S1047951113002175. PMID: 24423896
Successful aortic root replacement and shunt closure in a case with rare coexistence of congenital cardiac malformations: bicuspid aortic valve with annuloaortic ectasia, single coronary artery, and patent foramen ovale.
Egashira T, Shimizu H, Yamada Y, Fukuda K
Int J Cardiovasc Imaging 2014 Oct;30(7):1267-8. Epub 2014 Jun 11 doi: 10.1007/s10554-014-0458-0. PMID: 24916464

Therapy

Valve-Sparing Root Replacement in Elderly Patients With Annuloaortic Ectasia.
Yokawa K, Ikeno Y, Koda Y, Henmi S, Matsueda T, Takahashi H, Nakai H, Yamanaka K, Gotake Y, Tanaka H, Okita Y
Ann Thorac Surg 2019 May;107(5):1342-1347. Epub 2018 Dec 7 doi: 10.1016/j.athoracsur.2018.10.075. PMID: 30529676
Ventricular-Vascular Coupling in Marfan and Non-Marfan Aortopathies.
Loeper F, Oosterhof J, van den Dorpel M, van der Linde D, Lu Y, Robertson E, Hambly B, Jeremy R
J Am Heart Assoc 2016 Nov 16;5(11) doi: 10.1161/JAHA.116.003705. PMID: 27852591Free PMC Article
Clinical experience with the Bentall procedure: 28 years.
Joo HC, Chang BC, Youn YN, Yoo KJ, Lee S
Yonsei Med J 2012 Sep;53(5):915-23. doi: 10.3349/ymj.2012.53.5.915. PMID: 22869473Free PMC Article

Prognosis

Valve-Sparing Root Replacement in Elderly Patients With Annuloaortic Ectasia.
Yokawa K, Ikeno Y, Koda Y, Henmi S, Matsueda T, Takahashi H, Nakai H, Yamanaka K, Gotake Y, Tanaka H, Okita Y
Ann Thorac Surg 2019 May;107(5):1342-1347. Epub 2018 Dec 7 doi: 10.1016/j.athoracsur.2018.10.075. PMID: 30529676
Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.
Mariscalco G, Debiec R, Elefteriades JA, Samani NJ, Murphy GJ
J Am Heart Assoc 2018 Aug 7;7(15):e009302. doi: 10.1161/JAHA.118.009302. PMID: 30371227Free PMC Article
Ventricular-Vascular Coupling in Marfan and Non-Marfan Aortopathies.
Loeper F, Oosterhof J, van den Dorpel M, van der Linde D, Lu Y, Robertson E, Hambly B, Jeremy R
J Am Heart Assoc 2016 Nov 16;5(11) doi: 10.1161/JAHA.116.003705. PMID: 27852591Free PMC Article
Familial non-syndromal thoracic aortic aneurysms and dissections - Incidence and family screening outcomes.
Robertson EN, van der Linde D, Sherrah AG, Vallely MP, Wilson M, Bannon PG, Jeremy RW
Int J Cardiol 2016 Oct 1;220:43-51. Epub 2016 Jun 23 doi: 10.1016/j.ijcard.2016.06.086. PMID: 27372041
Repair of idiopathic ascending aortic aneurysm in a 7-year-old child.
Karthekeyan BR, Vakamudi M, Thangavel P
Cardiol Young 2015 Jan;25(1):154-7. Epub 2014 Jan 15 doi: 10.1017/S1047951113002175. PMID: 24423896

Clinical prediction guides

Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.
Mariscalco G, Debiec R, Elefteriades JA, Samani NJ, Murphy GJ
J Am Heart Assoc 2018 Aug 7;7(15):e009302. doi: 10.1161/JAHA.118.009302. PMID: 30371227Free PMC Article
C-reactive protein, not cardiac troponin T, improves risk prediction in hypertensives with type A aortic dissection.
Vrsalovic M, Zeljkovic I, Presecki AV, Pintaric H, Kruslin B
Blood Press 2015;24(4):212-6. Epub 2015 May 2 doi: 10.3109/08037051.2015.1025607. PMID: 25936403
Replacement of the aortic root with a composite valve-graft conduit: risk factor analysis in 246 consecutive patients.
Woldendorp K, Starra E, Seco M, Hendel PN, Jeremy RW, Wilson MK, Vallely MP, Bannon PG
Heart Lung Circ 2014 Dec;23(12):1187-93. Epub 2014 Jun 26 doi: 10.1016/j.hlc.2014.06.004. PMID: 25038031

Recent systematic reviews

Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.
Mariscalco G, Debiec R, Elefteriades JA, Samani NJ, Murphy GJ
J Am Heart Assoc 2018 Aug 7;7(15):e009302. doi: 10.1161/JAHA.118.009302. PMID: 30371227Free PMC Article

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